Canonical Allele Identifier: CA2610046386
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

gnomAD v4: 10-87863564-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863564G>T , CM000672.2:g.87863564G>T GRCh38
NC_000010.10:g.89623321G>T , CM000672.1:g.89623321G>T GRCh37
NC_000010.9:g.89613301G>T NCBI36
NG_007466.2:g.5127G>T , LRG_311:g.5127G>T
NG_033079.1:g.4874C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-890G>T (PTEN) ENSP00000516674.1:n.-16-890G>T
ENST00000688308.1:c.-17+451G>T (PTEN) ENSP00000508752.1:n.-17+451G>T
ENST00000692337.1:c.6G>T (MLDHR) ENSP00000509326.1:p.Trp2Cys
ENST00000693560.1:c.-386G>T (PTEN) ENSP00000509861.1:n.-386G>T
ENST00000371953.7:c.-906G>T (PTEN) ENSP00000361021.3:n.-906G>T
ENST00000610634.1:c.-1008G>T (PTEN) ENSP00000477517.1:n.-1008G>T
NM_000314.5:c.-905G>T (PTEN) NP_000305.3:n.-905G>T
NM_000314.6:c.-905G>T (PTEN) NP_000305.3:n.-905G>T
NM_001304717.2:c.-386G>T (PTEN) NP_001291646.2:n.-386G>T
NM_001304718.1:c.-1610G>T (PTEN) NP_001291647.1:n.-1610G>T
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